Spinal Muscular Atrophy (SMA)PSYSMANCT07208903
Psychological Evaluation of the Parental Experience of Newborn Screening for Infantile Spinal Muscular Atrophy in the Grand Est and Nouvelle-Aquitaine Regions
An observational study of Spinal Muscular Atrophy (SMA) and Spinal Muscular Atrophy Type I, run by University Hospital, Strasbourg, France.
Trial summary
The systematic inclusion of spinal muscular atrophy (SMA) in France's neonatal genetic screening (NGS) program, scheduled for September 2025, represents a major milestone in public health. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Spinal Muscular Atrophy (SMA), Spinal Muscular Atrophy Type I
- What is being tested?
- focus group discussions and Interview with the psychologist
- Type of treatment
- Lifestyle or therapy programme
- How many people
- 36 participants
- Where
- No sites listed yet
- Study dates
- 20 Oct 2025to 20 Oct 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: The study participants are parents of children born in the Grand Est or Nouvelle-Aquitaine regions who received a positive or false-negative result from the neonatal screening for SMA during DEPISMA study. They must be adults who are proficient in French and have had at least four months to process the screening results.
Who may be able to join
- Be the parent of a child included in the DEPISMA study, born in the Grand Est or Nouvelle-Aquitaine region;
- Have received a positive or false-negative result from the neonatal SMA screening;
- Be an adult at the time of inclusion;
- Be proficient in French in order to participate in a focus group or an individual interview, and to complete the self-administered questionnaires;
- Have been informed of the NNS result for at least 4 months, to allow sufficient time for a subjective reflection
Who cannot join
- Parent who is not sufficiently proficient in French to participate in focus groups or complete questionnaires
- Death of the child who was screened
About this study
The systematic inclusion of spinal muscular atrophy (SMA) in France's neonatal genetic screening (NGS) program, scheduled for September 2025, represents a major milestone in public health. While this screening enables early detection and therapeutic intervention before symptom onset, it also raises psychological and ethical challenges that remain underexplored-particularly during the highly sensitive postpartum period.
Currently, data on parental experiences following a positive SMA NGS result are scarce, fragmented, and largely derived from North American studies or from metabolic screening contexts. Early publications highlight high levels of parental anxiety, dissatisfaction with the quality of result disclosure, and difficulties in processing complex medical information in a short, emotionally charged timeframe. These findings underscore the need for a deeper understanding of the subjective processes at play in this situation.
Read more
The PSYSMA project is designed as an ancillary study to the DEPISMA trial. Its aim is to retrospectively explore parents' lived experiences, their psychosocial support needs, and the impact of NGS on family dynamics and the parent-child relationship. Special attention is given to cases with uncertain results (e.g., ≥4 SMN2 copies without treatment) and false negatives, which remain poorly documented but may trigger unique forms of parental anxiety or adaptation.
This research is justified by two main needs:
- to guide public health policy toward integrating psychological support from the earliest stages of screening, in line with French National Health Authority (HAS) recommendations;
- to generate new knowledge transferable to other genetic diseases that may be included in future neonatal screening programs.
The overarching goal is to retrospectively investigate the psychological experience of parents confronted with a positive or false-negative SMA NGS result, in order to analyze its subjective, emotional, and relational effects, as well as related needs for psychological support.
Study objectives :
- Compare parental experiences according to the nature of the result (with or without treatment indication).
- Identify psychosocial support needs, including for siblings.
- Assess anxiety, depression, and post-traumatic symptoms associated with NGS.
- Explore the broader impact on family functioning, particularly in relation to genetic counseling and communication within the extended family.
- Being tested
- focus group discussions, Interview with the psychologist
- Medical subject headings
- Muscular Atrophy, Spinal, Spinal Muscular Atrophies of Childhood
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
focus group discussionsBehavioural
These sessions will address:
- emotional reactions to the disclosure of the result
- perceptions and representations of the disease and its treatment
- the impact on the parent-child relationship
- the lived experience of neonatal screening and the perception of the support provided
Interview with the psychologistBehavioural
These sessions will address:
- emotional reactions to the disclosure of the result
- perceptions and representations of the disease and its treatment
- the impact on the parent-child relationship
- the lived experience of neonatal screening and the perception of the support provided
| Study group | Role | What they receive |
|---|---|---|
| Treated positive screening group | Parents of children with a positive neonatal genetic screening result who received treatment (<4 SMN2 copies) Receives: Behavioral: focus group discussions | |
| Untreated positive screening group | Parents of children with a positive neonatal genetic screening result who did not receive treatment (≥4 SMN2 copies) Receives: Behavioral: focus group discussions | |
| False-negative screening group | Parents of children with a false-negative neonatal genetic screening result (diagnosed secondarily) Receives: Behavioral: Interview with the psychologist |
What is being measured
The primary outcome is the main question the study is designed to answer.
Quantitative: Content of the questionnaires completed at the inclusion visit
Scores on the IES-R scale (Impact of Event Scale) for post-traumatic stress. Minimum value: 0 (if the person selects "not at all" for all 22 items).
Maximum value: 88 (if the person selects "extremely" for all 22 items). Interpretation: Higher scores reflect worse outcomes, meaning more severe post-traumatic stress symptoms (intrusion, avoidance, hyperarousal).
Measured: Month 4, plus or minus 2 months
Qualitative: Content of interviews/focus groups at the follow-up visit regarding
Emotional reactions to the announcement Representations of the illness and its treatment Impact on the parent-child relationship Experience of the screening process and the perception of support received
Measured: Month 4, plus or minus 2 months
Quantitative: Content of the questionnaires completed at the inclusion visit
Scores on the HADS scale (Hospital Anxiety and Depression Scale) for anxiety symptoms.
Structure: 14 items total, split into two subscales:
- HADS-A (Anxiety) - 7 items
- HADS-D (Depression) - 7 items Minimum value: 0 (no symptoms). Maximum value: 21 per subscale (if all items scored at the maximum of 3). but 42 total if both subscales are summed. Interpretation: Higher scores reflect a worse outcome, meaning greater anxiety and/or depressive symptom severity.
Measured: Month 4, plus or minus 2 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Oct 2025
- Study start20 Oct 2025 (estimated)
- Primary completion20 Oct 2026 (estimated)
- Study completion20 Oct 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Spinal Muscular Atrophy (SMA)Studies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 36 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07208903
- Sponsor's protocol ID
- 9759
- Acronym
- PSYSMA
- Status last verified
- Oct 2025
- First submitted
- 23 Sep 2025
- Last updated
- 6 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Psychological Evaluation of the Parental Experience of Newborn Screening for Infantile Spinal Muscular Atrophy in the Grand Est and Nouvelle-Aquitaine Regions
- ClinicalTrials.gov ID
- NCT07208903
- Acronym / sponsor ID
- PSYSMA / 9759
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 36 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- 20 Oct 2025 (estimated)
- Primary completion
- 20 Oct 2026 (estimated)
- Study completion
- 20 Oct 2026 (estimated)
- First posted
- 6 Oct 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The systematic inclusion of spinal muscular atrophy (SMA) in France's neonatal genetic screening (NGS) program, scheduled for September 2025, represents a major milestone in public health. While this screening enables early detection and therapeutic intervention before symptom onset, it also raises psychological and ethical challenges that remain underexplored-particularly during the highly sensitive postpartum period.
Currently, data on parental experiences following a positive SMA NGS result are scarce, fragmented, and largely derived from North American studies or from metabolic screening contexts. Early publications highlight high levels of parental anxiety, dissatisfaction with the quality of result disclosure, and difficulties in processing complex medical information in a short, emotionally charged timeframe. These findings underscore the need for a deeper understanding of the subjective processes at play in this situation.
The PSYSMA project is designed as an ancillary study to the DEPISMA trial. Its aim is to retrospectively explore parents' lived experiences, their psychosocial support needs, and the impact of NGS on family dynamics and the parent-child relationship. Special attention is given to cases with uncertain results (e.g., ≥4 SMN2 copies without treatment) and false negatives, which remain poorly documented but may trigger unique forms of parental anxiety or adaptation.
This research is justified by two main needs:
- to guide public health policy toward integrating psychological support from the earliest stages of screening, in line with French National Health Authority (HAS) recommendations;
- to generate new knowledge transferable to other genetic diseases that may be included in future neonatal screening programs.
The overarching goal is to retrospectively investigate the psychological experience of parents confronted with a positive or false-negative SMA NGS result, in order to analyze its subjective, emotional, and relational effects, as well as related needs for psychological support.
Study objectives :
- Compare parental experiences according to the nature of the result (with or without treatment indication).
- Identify psychosocial support needs, including for siblings.
- Assess anxiety, depression, and post-traumatic symptoms associated with NGS.
- Explore the broader impact on family functioning, particularly in relation to genetic counseling and communication within the extended family.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Treated positive screening group | – | Behavioral: focus group discussionsParents of children with a positive neonatal genetic screening result who received treatment (<4 SMN2 copies) |
| Untreated positive screening group | – | Behavioral: focus group discussionsParents of children with a positive neonatal genetic screening result who did not receive treatment (≥4 SMN2 copies) |
| False-negative screening group | – | Behavioral: Interview with the psychologistParents of children with a false-negative neonatal genetic screening result (diagnosed secondarily) |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- The study participants are parents of children born in the Grand Est or Nouvelle-Aquitaine regions who received a positive or false-negative result from the neonatal screening for SMA during DEPISMA study. They must be adults who are proficient in French and have had at least four months to process the screening results.
Key inclusion criteria (5 listed)
- Be the parent of a child included in the DEPISMA study, born in the Grand Est or Nouvelle-Aquitaine region;
- Have received a positive or false-negative result from the neonatal SMA screening;
- Be an adult at the time of inclusion;
- Be proficient in French in order to participate in a focus group or an individual interview, and to complete the self-administered questionnaires;
- Have been informed of the NNS result for at least 4 months, to allow sufficient time for a subjective reflection
Key exclusion criteria (2 listed)
- Parent who is not sufficiently proficient in French to participate in focus groups or complete questionnaires
- Death of the child who was screened
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| focus group discussionsThese sessions will address: * emotional reactions to the disclosure of the result * perceptions and representations of the disease and its treatment * the impact on the parent-child relationship * the lived experience of neonatal screening and the perception of the support provided | Behavioural | Treated positive screening group, Untreated positive screening group |
| Interview with the psychologistThese sessions will address: * emotional reactions to the disclosure of the result * perceptions and representations of the disease and its treatment * the impact on the parent-child relationship * the lived experience of neonatal screening and the perception of the support provided | Behavioural | False-negative screening group |
Primary outcome
Quantitative: Content of the questionnaires completed at the inclusion visit
Time frame: Month 4, plus or minus 2 months
Scores on the IES-R scale (Impact of Event Scale) for post-traumatic stress. Minimum value: 0 (if the person selects "not at all" for all 22 items). Maximum value: 88 (if the person selects "extremely" for all 22 items). Interpretation: Higher scores reflect worse outcomes, meaning more severe post-traumatic stress symptoms (intrusion, avoidance, hyperarousal).
Qualitative: Content of interviews/focus groups at the follow-up visit regarding
Time frame: Month 4, plus or minus 2 months
Emotional reactions to the announcement Representations of the illness and its treatment Impact on the parent-child relationship Experience of the screening process and the perception of support received
Quantitative: Content of the questionnaires completed at the inclusion visit
Time frame: Month 4, plus or minus 2 months
Scores on the HADS scale (Hospital Anxiety and Depression Scale) for anxiety symptoms. Structure: 14 items total, split into two subscales: * HADS-A (Anxiety) - 7 items * HADS-D (Depression) - 7 items Minimum value: 0 (no symptoms). Maximum value: 21 per subscale (if all items scored at the maximum of 3). but 42 total if both subscales are summed. Interpretation: Higher scores reflect a worse outcome, meaning greater anxiety and/or depressive symptom severity.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 Oct 2025.
- Individual participant dataSharing planned: No
Related trials for Spinal Muscular Atrophy (SMA)
Active, not recruitingPhase 4
A Study Evaluating the Effectiveness and Safety of Risdiplam Administered as an Early Intervention in Pediatric Participants With Spinal Muscular Atrophy After Gene Therapy
Muscular Atrophy, Spinal
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingObservational study
A Study of Risdiplam in Participants With Type I and Type II Spinal Muscle Atrophy (SMA)
Spinal Muscle Atrophy
RecruitingPhase 3
A Study to Learn About the Investigational Drug Rinzimetostat (ORIC-944) in Patients With mCRPC Who Were Previously Treated With Abiraterone Acetate (Himalayas-1)
Metastatic Castration Resistant Prostate Cancer
Recruiting
Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers
Spinal Muscular Atrophy (SMA), Charcot-Marie-Tooth
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of Spinal Muscular Atrophy (SMA) and Spinal Muscular Atrophy Type I, run by University Hospital, Strasbourg, France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 6 Oct 2025. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Quantitative: Content of the questionnaires completed at the inclusion visit (time frame: Month 4, plus or minus 2 months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 Oct 2025.